H18H (p.His18His) variant of CHAMP1 (Q96JM3)
H18H (p.His18His) in CHAMP1 (Q96JM3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
H18H (p.His18His) variant details
- p.His18His
- rs143869900
- gnomAD 13-114323896-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.315
- CADD 9.14
- Most common in the 1KG:JPT population (allele frequency 0.025)
- Structural context available
- Literature evidence available